20 months old with pancreas problems but negative sweat test?

Sanfloraine - posted on 01/26/2012 ( 10 moms have responded )

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My 20 months old boy has a lot of symptoms associated with CF:

- loose stools with a pungent smell since I stopped breastfeeding him last June when he was 13 months old. Until then hist stools were always fine but since then they have NEVER been normal.

- he is often congested, he had sinusitis this summer

- he was just diagnosed with pancreas problems and started taking pancreas enzymes

- and he also has hypotonia that delayed his motor skills, he finally started to walk at 19 months old



He had a first sweat test 2 months ago that was negative, not even borderline.



Now the gastroenterologist wants him to take an other sweat test and to also have a blood test to check for CF mutations.



Can he have CF with a negative sweat test??



- worried mom

10 Comments

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Belinda - posted on 02/11/2012

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That is fantastic news!! A weight must have come off your shoulders!

A throat culture will just be to check to see if there is any bacteria.



It cant hurt at all to have the full genetic screen, even if it is just for peace of mind. It is also good for your son to be aware if he is a carrier so that he is aware of it for later down the track when/if he wants to have children.



Good luck with the endoscopy...keep us updated :)

Sanfloraine - posted on 02/10/2012

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Well some good news: we saw a lung doctor who said it is not CF! She said his breathing problems are due to allergies and to get rid of our cats.... We are relieved but we'll keep the cats!



She suggested we do the complete gene sequencing for all CF mutations and we decided to do it to put our mind completely at ease. Our insurance covers most of it so why not! Results in 2 months.



She also took a throat culture but she said that it will mean nothing (?)



That's said, he still has a problem with his pancreas, still has to take enzymes 4-5 times a day. She categorized it as "moderate", not severe. She suggested an endoscopy so we have to go back to the gastroenterologist... it never ends but at least it does not seem to be CF so that's something!

Belinda - posted on 02/04/2012

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Hi again Sanfloraine,



Yes, my son is also pancreatic insufficient. He up to 30 tablets a day. During the first year, my son was on a prescribed formula is he wasnt getting what he needed for OTC tins.

We also figured out since then that he is also dairy protein allergic, and soy is the only thing he can tolerate (and we have tried every sort of dairy under the sun!) which makes it just that little bit harder.

He laso eats the CF diet of high fat/high salt.

He is anemic, Vit D deficient and takes a multitude of drugs daily.



FOr the last 2years, they have been trying to figure out if my 5y/o daughter is also CF. They have determined that she is a carrier, but no CF, she just has respiratory problems (gets croup very often) so we treat her as CF when she is coughing and spluttering.



I wish you luck with it all

Iridescent - posted on 02/04/2012

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The CF clinic should help a lot. We also see a CF specialist, even though CF specifically has been ruled out. Apparently the IgA stuff is just as serious. He does not take enzymes; his gut doesn't digest anymore, so his formula is already broken down and simply absorbed through the intestine.

Sanfloraine - posted on 02/04/2012

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Your post reassures me a little - even if I am sure your son's condition is no fun.



Does he take pancreatic enzymes?



We're still waiting for the result of the first 32 mutations that were tested. If this test is negative, hopefully they'll test for more mutations.



For now we have decided to treat his symptoms as if it were CF, we're seeing a lung doctor at the local CF clinic nest week. Maybe they can shed more light on his condition...

Iridescent - posted on 02/04/2012

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We have a child with a lot of symptoms of CF, but his sweat test was also negative. He's 4. He has a feeding tube and is on elemental formula now. He has moderate uncontrolled asthma and is often sick. His stools are AWFUL. All any of the testing has found is that he has no IgA Antibodies at all. Genetic testing was just started, and so far has also been negative.



Yes, CF can occur with a negative sweat test. It's not common but can happen. But other disorders can also mimic CF.

Sanfloraine - posted on 02/04/2012

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Thanks! But I do worry... it seems to me that most often being pancreatic insufficient it is related to CF??

Belinda - posted on 01/31/2012

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My daughter tested equivocal twice on sweat test...she was right on the borderline. It took them almost 2 years of genetic testing for them to say that she is only a carrier (but has respiratory issues)



Try not to worry :)

Sanfloraine - posted on 01/31/2012

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Thanks Belinda.



He was just tested for 32 mutations, we should get the results by the end of the week. By I already know it won't be good.

Belinda - posted on 01/28/2012

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simple answer, yes.



I have a son (2.5yrs) with CF who is pancreatic insufficient. A good friend of mine, whose 4y/o son also has CF had a negative sweat test result, but they found out months later that he tested positive through genetic testing.



Even if you get a diagnosis, not a lot more will change from what you are going through now. It's just a label.



You can contact me anytime (on here, or at bellasblog@hotmail.com)

Good luck :)

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